SNP Links for Gene (Select 284106) - SNP

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Items: 1 to 20 of 2005

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Select item 14911419811.

rs1491141981 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACCT,ACCTG [Show Flanks]
Chromosome:: 17:38733212 (GRCh38)
17:36889466 (GRCh37)
Canonical SPDI:: NC_000017.11:38733212::ACCT,NC_000017.11:38733212::ACCTG
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACCTG=0./0 (ALFA)
ACCT=0.00006/4 (GnomAD)
HGVS:: NC_000017.11:g.38733212_38733213insACCT, NC_000017.11:g.38733212_38733213insACCTG, NC_000017.10:g.36889465_36889466insACCT, NC_000017.10:g.36889465_36889466insACCTG, NT_187614.1:g.2768531_2768532insACCT, NT_187614.1:g.2768531_2768532insACCTG

Select item 14910533202.

rs1491053320 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 17:38732969 (GRCh38)
17:36889222 (GRCh37)
Canonical SPDI:: NC_000017.11:38732967:CTC:C,NC_000017.11:38732967:CTC:CTCTC
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005162/58 (ALFA)
CT=0.000004/1 (TOPMED)
-=0.005/3 (NorthernSweden)
-=0.017126/287 (TOMMO)
-=0.105432/5000 (GnomAD)
HGVS:: NC_000017.11:g.38732969_38732970del, NC_000017.11:g.38732969_38732970dup, NC_000017.10:g.36889222_36889223del, NC_000017.10:g.36889222_36889223dup, NT_187614.1:g.2768288_2768289del, NT_187614.1:g.2768288_2768289dup

Select item 14910299123.

rs1491029912 has merged into rs566327867 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 17:38734542 (GRCh38)
17:36890795 (GRCh37)
Canonical SPDI:: NC_000017.11:38734539:AGAG:AG,NC_000017.11:38734539:AGAG:AGAGAG
Gene:: PCGF2 (Varview), CISD3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
-=0.000156/1 (1000Genomes)
-=0.001002/1 (GoNL)
-=0.078209/290 (TWINSUK)
-=0.079139/305 (ALSPAC)
HGVS:: NC_000017.11:g.38734540AG[1], NC_000017.11:g.38734540AG[3], NC_000017.10:g.36890793AG[1], NC_000017.10:g.36890793AG[3], NT_187614.1:g.2769859AG[1], NT_187614.1:g.2769859AG[3], NM_007144.3:c.*680CT[1], NM_007144.3:c.*680CT[3], NM_007144.2:c.*680CT[1], NM_007144.2:c.*680CT[3], NM_001136498.2:c.*1085AG[1], NM_001136498.2:c.*1085AG[3], NM_001136498.1:c.*1085AG[1], NM_001136498.1:c.*1085AG[3], XM_017025016.2:c.*680CT[1], XM_017025016.2:c.*680CT[3], XM_017025016.1:c.*680CT[1], XM_017025016.1:c.*680CT[3], XM_047436661.1:c.*680CT[1], XM_047436661.1:c.*680CT[3], XM_047436660.1:c.*680CT[1], XM_047436660.1:c.*680CT[3], NM_001369615.1:c.*680CT[1], NM_001369615.1:c.*680CT[3], NM_001369614.1:c.*680CT[1], NM_001369614.1:c.*680CT[3]

Select item 14906655464.

rs1490665546 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38733348 (GRCh38)
17:36889601 (GRCh37)
Canonical SPDI:: NC_000017.11:38733347:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.38733348C>T, NC_000017.10:g.36889601C>T, NT_187614.1:g.2768667C>T, NM_001136498.2:c.277C>T, NM_001136498.1:c.277C>T, NP_001129970.1:p.Arg93Cys

Select item 14906593625.

rs1490659362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38732227 (GRCh38)
17:36888480 (GRCh37)
Canonical SPDI:: NC_000017.11:38732226:G:A
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38732227G>A, NC_000017.10:g.36888480G>A, NT_187614.1:g.2767546G>A

Select item 14905472006.

rs1490547200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38730026 (GRCh38)
17:36886279 (GRCh37)
Canonical SPDI:: NC_000017.11:38730025:C:G
Gene:: MLLT6 (Varview), CISD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38730026C>G, NC_000017.10:g.36886279C>G, NT_187614.1:g.2765345C>G

Select item 14901009867.

rs1490100986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:38730177 (GRCh38)
17:36886430 (GRCh37)
Canonical SPDI:: NC_000017.11:38730176:C:A
Gene:: MLLT6 (Varview), CISD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38730177C>A, NC_000017.10:g.36886430C>A, NT_187614.1:g.2765496C>A

Select item 14899369618.

rs1489936961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38730477 (GRCh38)
17:36886730 (GRCh37)
Canonical SPDI:: NC_000017.11:38730476:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38730477C>T, NC_000017.10:g.36886730C>T, NT_187614.1:g.2765796C>T

Select item 14899302119.

rs1489930211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:38735515 (GRCh38)
17:36891768 (GRCh37)
Canonical SPDI:: NC_000017.11:38735514:G:T
Gene:: PCGF2 (Varview), CISD3 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38735515G>T, NC_000017.10:g.36891768G>T, NT_187614.1:g.2770834G>T, NM_007144.3:c.743C>A, NM_007144.2:c.743C>A, NM_001136498.2:c.*2060G>T, NM_001136498.1:c.*2060G>T, XM_017025016.2:c.743C>A, XM_017025016.1:c.743C>A, XM_047436661.1:c.743C>A, XM_047436660.1:c.743C>A, NM_001369615.1:c.743C>A, NM_001369614.1:c.743C>A, NP_009075.1:p.Thr248Asn, XP_016880505.1:p.Thr248Asn, XP_047292617.1:p.Thr248Asn, XP_047292616.1:p.Thr248Asn, NP_001356544.1:p.Thr248Asn, NP_001356543.1:p.Thr248Asn

Select item 148952353210.

rs1489523532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38732830 (GRCh38)
17:36889083 (GRCh37)
Canonical SPDI:: NC_000017.11:38732829:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38732830C>T, NC_000017.10:g.36889083C>T, NT_187614.1:g.2768149C>T

Select item 148911761111.

rs1489117611 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>- [Show Flanks]
Chromosome:: 17:38732938 (GRCh38)
17:36889191 (GRCh37)
Canonical SPDI:: NC_000017.11:38732936:AGACA:A
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.38732938_38732941del, NC_000017.10:g.36889191_36889194del, NT_187614.1:g.2768257_2768260del

Select item 148826668912.

rs1488266689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38735553 (GRCh38)
17:36891806 (GRCh37)
Canonical SPDI:: NC_000017.11:38735552:C:T
Gene:: PCGF2 (Varview), CISD3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
HGVS:: NC_000017.11:g.38735553C>T, NC_000017.10:g.36891806C>T, NT_187614.1:g.2770872C>T, NM_007144.3:c.705G>A, NM_007144.2:c.705G>A, NM_001136498.2:c.*2098C>T, NM_001136498.1:c.*2098C>T, XM_017025016.2:c.705G>A, XM_017025016.1:c.705G>A, XM_047436661.1:c.705G>A, XM_047436660.1:c.705G>A, NM_001369615.1:c.705G>A, NM_001369614.1:c.705G>A

Select item 148803033913.

rs1488030339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38733258 (GRCh38)
17:36889511 (GRCh37)
Canonical SPDI:: NC_000017.11:38733257:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38733258C>T, NC_000017.10:g.36889511C>T, NT_187614.1:g.2768577C>T

Select item 148750678314.

rs1487506783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38728791 (GRCh38)
17:36885044 (GRCh37)
Canonical SPDI:: NC_000017.11:38728790:G:A
Gene:: MLLT6 (Varview), CISD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.38728791G>A, NC_000017.10:g.36885044G>A, NG_050854.1:g.154G>A, NT_187614.1:g.2764110G>A, NM_005937.4:c.*3193G>A, NM_005937.3:c.*3193G>A

Select item 148723311115.

rs1487233111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38732389 (GRCh38)
17:36888642 (GRCh37)
Canonical SPDI:: NC_000017.11:38732388:T:C
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38732389T>C, NC_000017.10:g.36888642T>C, NT_187614.1:g.2767708T>C

Select item 148705237116.

rs1487052371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38730778 (GRCh38)
17:36887031 (GRCh37)
Canonical SPDI:: NC_000017.11:38730777:G:C
Gene:: CISD3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38730778G>C, NC_000017.10:g.36887031G>C, NT_187614.1:g.2766097G>C, NM_001136498.2:c.67G>C, NM_001136498.1:c.67G>C, NP_001129970.1:p.Asp23His

Select item 148702516317.

rs1487025163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38729370 (GRCh38)
17:36885623 (GRCh37)
Canonical SPDI:: NC_000017.11:38729369:A:G
Gene:: MLLT6 (Varview), CISD3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38729370A>G, NC_000017.10:g.36885623A>G, NT_187614.1:g.2764689A>G, NM_005937.4:c.*3772A>G, NM_005937.3:c.*3772A>G

Select item 148582858818.

rs1485828588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38730050 (GRCh38)
17:36886303 (GRCh37)
Canonical SPDI:: NC_000017.11:38730049:C:T
Gene:: MLLT6 (Varview), CISD3 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000198/3 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000017.11:g.38730050C>T, NC_000017.10:g.36886303C>T, NT_187614.1:g.2765369C>T

Select item 148527241419.

rs1485272414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38733046 (GRCh38)
17:36889299 (GRCh37)
Canonical SPDI:: NC_000017.11:38733045:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.38733046C>T, NC_000017.10:g.36889299C>T, NT_187614.1:g.2768365C>T

Select item 148450699320.

rs1484506993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38732816 (GRCh38)
17:36889069 (GRCh37)
Canonical SPDI:: NC_000017.11:38732815:C:T
Gene:: CISD3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.38732816C>T, NC_000017.10:g.36889069C>T, NT_187614.1:g.2768135C>T

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